Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells. The type II keratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This gene encodes a type II keratin that is specifically expressed in the inne... See more...

Aliases for KRT72 Gene

Aliases for KRT72 Gene

  • Keratin 72 2 3 5
  • KRT6IRS2 2 3 4
  • K6IRS2 2 3 4
  • KRT6 2 3 4
  • Type II Inner Root Sheath-Specific Keratin-K6irs2 3 4
  • Keratin, Type II Cytoskeletal 72 3 4
  • Type-II Keratin Kb35 3 4
  • Keratin 72, Type II 2 3
  • Cytokeratin-72 3 4
  • K6irs 2 3
  • CK-72 3 4
  • K72 3 4
  • Keratin 6, Inner Root Sheath, 2 3
  • Keratin Protein K6irs 3
  • Keratin-72 4
  • KRT72 5
  • KB35 4

External Ids for KRT72 Gene

Previous GeneCards Identifiers for KRT72 Gene

  • GC12M051266
  • GC12M052979
  • GC12M050023

Summaries for KRT72 Gene

Entrez Gene Summary for KRT72 Gene

  • Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells. The type II keratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This gene encodes a type II keratin that is specifically expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q12-q13. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2009]

GeneCards Summary for KRT72 Gene

KRT72 (Keratin 72) is a Protein Coding gene. Diseases associated with KRT72 include Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse and Loose Anagen Hair Syndrome. Among its related pathways are Developmental Biology and Keratinization. Gene Ontology (GO) annotations related to this gene include structural molecule activity. An important paralog of this gene is KRT71.

UniProtKB/Swiss-Prot Summary for KRT72 Gene

  • Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable).

Additional gene information for KRT72 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRT72 Gene

Genomics for KRT72 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KRT72 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J052601 Promoter 0.3 EPDnew 600.7 +1.4 1417 0.1 KRT72 KRT73-AS1 KRT74
GH12J052629 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 40 -28.8 -28801 6.2 PKNOX1 ZNF316 MAFK MAFG ZNF707 NFIC SPI1 NFIB NFIL3 POLR2A KRT73 LOC105369772 KRT72 ENSG00000257605 HNRNPA3P10 KRT1 ATG101 KRT71 ENSG00000257475 KRT128P
GH12J052579 Enhancer 1.1 FANTOM5 Ensembl ENCODE 44.4 +21.0 20998 4.6 CTCF PRDM10 PRDM1 ZIC2 REST RAD21 SP1 TRIM22 SCRT2 ZBTB20 lnc-KRT72-1 KRT72 AAAS HNRNPA3P10 KRT1 ZNF740 KRT71 KRT78 KRT79 KRT2
GH12J052609 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 34.1 -8.1 -8101 17.2 FOXA1 ZIC2 SCRT2 MGA ESR1 E2F5 USF1 ESRRA GABPA NFYB KRT73-AS1 KRT72 KRT2 KRT1 KRT74 KRT71 KRT78 KRT4 KRT79 KRT76
GH12J052626 Enhancer 0.7 Ensembl dbSUPER 39.5 -24.0 -24001 1.4 ZNF766 NR2C2 GABPA KLF9 SIX4 ZNF701 ELF1 KRT72 PCBP2 HNRNPA3P10 SP1 AAAS ATF7 ENSG00000257550 ZNF740 KRT73 ENSG00000257475
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRT72 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRT72

Top Transcription factor binding sites by QIAGEN in the KRT72 gene promoter:
  • AML1a
  • C/EBPalpha
  • CHOP-10
  • GATA-1
  • HSF2
  • NF-1
  • Nkx2-5
  • Oct-B1
  • PPAR-alpha
  • ZID

Genomic Locations for KRT72 Gene

Genomic Locations for KRT72 Gene
chr12:52,585,589-52,602,900
(GRCh38/hg38)
Size:
17,312 bases
Orientation:
Minus strand
chr12:52,979,373-52,995,322
(GRCh37/hg19)
Size:
15,950 bases
Orientation:
Minus strand

Genomic View for KRT72 Gene

Genes around KRT72 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRT72 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRT72 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRT72 Gene

Proteins for KRT72 Gene

  • Protein details for KRT72 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14CN4-K2C72_HUMAN
    Recommended name:
    Keratin, type II cytoskeletal 72
    Protein Accession:
    Q14CN4
    Secondary Accessions:
    • B4DEI8
    • H9KV51
    • Q8NA87
    • Q8WWY9
    • Q8WWZ0

    Protein attributes for KRT72 Gene

    Size:
    511 amino acids
    Molecular mass:
    55877 Da
    Quaternary structure:
    • Heterotetramer of two type I and two type II keratins.
    SequenceCaution:
    • Sequence=BAC04039.1; Type=Erroneous initiation; Evidence={ECO:0000305};
    Miscellaneous:
    • There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa, respectively).

    Alternative splice isoforms for KRT72 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KRT72 Gene

Post-translational modifications for KRT72 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KRT72 Gene

Domains & Families for KRT72 Gene

Gene Families for KRT72 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for KRT72 Gene

InterPro:
Blocks:
  • Intermediate filament protein
  • Type II keratin signature
ProtoNet:

Suggested Antigen Peptide Sequences for KRT72 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50908, highly similar to Homo sapiens keratin protein K6irs (K6IRS2), mRNA (B4DXK4_HUMAN)
  • Type-II keratin Kb35 (K2C72_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14CN4

UniProtKB/Swiss-Prot:

K2C72_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with KRT72: view

Function for KRT72 Gene

Molecular function for KRT72 Gene

UniProtKB/Swiss-Prot Function:
Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable).

Phenotypes From GWAS Catalog for KRT72 Gene

Gene Ontology (GO) - Molecular Function for KRT72 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with KRT72: view
genes like me logo Genes that share phenotypes with KRT72: view

Animal Model Products

CRISPR Products

miRNA for KRT72 Gene

miRTarBase miRNAs that target KRT72

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRT72

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KRT72 Gene

Localization for KRT72 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KRT72 gene
Compartment Confidence
cytosol 5
extracellular 4
cytoskeleton 3
mitochondrion 3
nucleus 2
plasma membrane 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for KRT72 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IEA --
GO:0045095 keratin filament IEA --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with KRT72: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRT72 Gene

Pathways & Interactions for KRT72 Gene

PathCards logo

SuperPathways for KRT72 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRT72: view

Pathways by source for KRT72 Gene

2 Reactome pathways for KRT72 Gene

Gene Ontology (GO) - Biological Process for KRT72 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0031424 keratinization TAS --
GO:0070268 cornification TAS --
genes like me logo Genes that share ontologies with KRT72: view

No data available for SIGNOR curated interactions for KRT72 Gene

Drugs & Compounds for KRT72 Gene

No Compound Related Data Available

Transcripts for KRT72 Gene

mRNA/cDNA for KRT72 Gene

3 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRT72

Alternative Splicing Database (ASD) splice patterns (SP) for KRT72 Gene

No ASD Table

Relevant External Links for KRT72 Gene

GeneLoc Exon Structure for
KRT72

Expression for KRT72 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRT72 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KRT72 Gene

This gene is overexpressed in Testis (x17.5), Skin - Not Sun Exposed (Suprapubic) (x11.3), Skin - Sun Exposed (Lower leg) (x9.8), and Whole Blood (x8.6).

Protein differential expression in normal tissues from HIPED for KRT72 Gene

This gene is overexpressed in Cervix (25.5), Saliva (14.8), and Bone marrow mesenchymal stem cell (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KRT72 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRT72

SOURCE GeneReport for Unigene cluster for KRT72 Gene:

Hs.662013

mRNA Expression by UniProt/SwissProt for KRT72 Gene:

Q14CN4-K2C72_HUMAN
Tissue specificity: Highly expressed in hair follicles from scalp and eyebrow. Also expressed in palmoplantar epidermis. Not expressed in face skin despite the presence of fine hairs histologically. In hair, it is specifically present in the inner root sheath (IRS) of the hair follicle. Present in the IRS cuticle, but not in Henle or Huxley layers of the IRS. In the IRS cuticle, its presence is delayed up to the height of the apex of the dermal papilla (at protein level).

Evidence on tissue expression from TISSUES for KRT72 Gene

  • Nervous system(4.4)
  • Lung(2.4)
  • Skin(2.3)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with KRT72: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for KRT72 Gene

Orthologs for KRT72 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KRT72 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KRT72 30 31
  • 98.37 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KRT72 30 31
  • 86.63 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KRT72 30 31
  • 86.3 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Krt72 30
  • 83.33 (n)
Mouse
(Mus musculus)
Mammalia Krt72 30 17 31
  • 82.81 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 68 (a)
ManyToMany
-- 31
  • 66 (a)
ManyToMany
-- 31
  • 66 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 46 (a)
ManyToMany
Species where no ortholog for KRT72 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for KRT72 Gene

ENSEMBL:
Gene Tree for KRT72 (if available)
TreeFam:
Gene Tree for KRT72 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KRT72: view image

Paralogs for KRT72 Gene

(41) SIMAP similar genes for KRT72 Gene using alignment to 4 proteins:

  • K2C72_HUMAN
  • B4DXK4_HUMAN
  • H0YHD9_HUMAN
  • H0YIG3_HUMAN
genes like me logo Genes that share paralogs with KRT72: view

Variants for KRT72 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRT72 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs11170183 - p.Arg428Leu
rs11170187 - p.Asn171Asp
rs12833456 - p.Tyr264Cys
rs34769047 - p.Gln326Glu
rs7310138 - p.Asp366Glu

Additional dbSNP identifiers (rs#s) for KRT72 Gene

Structural Variations from Database of Genomic Variants (DGV) for KRT72 Gene

Variant ID Type Subtype PubMed ID
nsv428281 CNV gain 18775914
nsv832415 CNV loss 17160897
nsv976621 CNV duplication 23825009

Variation tolerance for KRT72 Gene

Residual Variation Intolerance Score: 97.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 23.57; 99.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRT72 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRT72

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRT72 Gene

Disorders for KRT72 Gene

MalaCards: The human disease database

(4) MalaCards diseases for KRT72 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search KRT72 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with KRT72: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KRT72 Gene

Publications for KRT72 Gene

  1. Keratin K6irs is specific to the inner root sheath of hair follicles in mice and humans. (PMID: 11703281) Porter RM … McLean WH (The British journal of dermatology 2001) 2 3 4 23
  2. K6irs1, K6irs2, K6irs3, and K6irs4 represent the inner-root-sheath-specific type II epithelial keratins of the human hair follicle. (PMID: 12648212) Langbein L … Schweizer J (The Journal of investigative dermatology 2003) 2 3 4
  3. New consensus nomenclature for mammalian keratins. (PMID: 16831889) Schweizer J … Wright MW (The Journal of cell biology 2006) 2 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for KRT72 Gene

Sources for KRT72 Gene